NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs12562659          
refSNP ID: rs12562659
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_182663.2:c.580-21694G>A
NM_182664.2:c.580-21694G>A
NM_182665.2:c.120+3886G>A
NT_021877.18:g.252686G>A
Links

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss19834860 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12562659 during BLAST analysis for the current build.

NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss19834860CSHL-HAPMAP|CSHL-HuFF-200402.chr1.NT_021877.16_198014fwd/TA/Ggttaatagataaacctctatcttcccactgagactcctcctcatgtgtgtttttctctgt02/21/0403/04/04120Genomicunknown
ss20518165SSAHASNP|WGSA-200403-chr1.chr1.NT_021877.16_198014fwd/TA/Ggttaatagataaacctctatcttcccactgagactcctcctcatgtgtgtttttctctgt03/18/0403/18/04123Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12562659|allelePos=201|totalLen=701|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=123
 ACTTCAGGCT GGGTCAGGTT TTGAAAGGTC CTTCCCATCC CTCCATTCCT TAAGGCATGC
 TAGCTAAGGG GACATTGACC CTACACTTGA TTTTAGCAGG TAGTCCCTGT AATCTTACAA
 CTTTAGTGAC TTAAAAGTTC TTCTTGGTGT CTATCCTACA ACTGAAATAT GTTAATAGAT
 AAACCTCTAT CTTCCCACTG
 R
 AGACTCCTCC TCATGTGTGT TTTTCTCTGT GGATACAAAG AACAGAAGGT TGACTATATC
 TACAGTTAAA TATttttctt tttctttttt tttttttttt tttgagatgg agttttgctc
 ttgttgccca ggctggagta caatgacgcg atctcggctc actgcaacct ctgcctccca
 ggttcaagca attctcctgc ctcagcctcc tgagtagctg agattacagg cacccaccac
 cacacccagc taagttttgt gttttttttt ttgagtagag acagggtttc acaatgttgg
 ccaggtcttg aactcctgac ctcaggtgaa cccctacctc ggcctcccaa ggtgctggga
 ttacaggagt gagccaccgc acccggccTA TAGTTAAATA TTATACTTAA GTACATAGAA
 AACACACTCC CATGCCCCCA TCTGCCTAGG CTTTCTTGGG TCTACAGTGA CACCATTGAA
 TTCTTTTTCT TCAAGGAAGA

  GeneView back to top
GeneView via analysis of contig annotation: RASSF5 Ras association (RalGDS/AF-6) domain family member 5
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label
Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_021877->NM_182663
svfunction
referenceNT_021877->NM_182664
svfunction
referenceNT_021877->NM_182665
svfunction
HuRefNW_001838536->NM_182663
svfunction
HuRefNW_001838536->NM_182664
svfunction
HuRefNW_001838536->NM_182665
svfunction
CeleraNW_926794->NM_182663
svfunction
CeleraNW_926794->NM_182664
svfunction
CeleraNW_926794->NM_182665
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_021877->NM_182663->NP_872604252686forwardintron
referenceNT_021877->NM_182664->NP_872605252686forwardintron
referenceNT_021877->NM_182665->NP_872606252686forwardintron
HuRefNW_001838536->NM_182663->NP_872604166030forwardintron
HuRefNW_001838536->NM_182664->NP_872605166030forwardintron
HuRefNW_001838536->NM_182665->NP_872606166030forwardintron
CeleraNW_926794->NM_182663->NP_872604152113forwardintron
CeleraNW_926794->NM_182664->NP_872605152113forwardintron
CeleraNW_926794->NM_182665->NP_872606152113forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12562659 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
1NW_001838536.1166030177433226plusGalt_assembly_8HuRefHuRefview200
1NW_926794.1152113179986353plusAalt_assembly_1CeleraCeleraview200
1NT_021877.18252686204801530plusGref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_021877
dbSNP Blast Analysis
GenBank HTGS Finished:
AL354681.8 NC_000001.9

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterUNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION:
FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .